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MaveDB v2: a curated community database with over three million variant effects from multiplexed functional assays

Authors :
Alan F Rubin
Joseph K Min
Nathan J Rollins
Estelle Y Da
Daniel Esposito
Matthew Harrington
Jeremy Stone
Aisha Haley Bianchi
Mafalda Dias
Jonathan Frazer
Yunfan Fu
Molly Gallaher
Iris Li
Olivia Moscatelli
Jesslyn YL Ong
Joshua E Rollins
Matthew J Wakefield
Shenyi 'Sunny' Ye
Amy Tam
Abbye E McEwen
Lea M Starita
Vanessa L Bryant
Debora S Marks
Douglas M Fowler
Publication Year :
2021
Publisher :
Cold Spring Harbor Laboratory, 2021.

Abstract

A central problem in genomics is understanding the effect of individual DNA variants. Multiplexed Assays of Variant Effect (MAVEs) can help address this challenge by measuring all possible single nucleotide variant effects in a gene or regulatory sequence simultaneously. Here we describe MaveDB v2, which has become the database of record for MAVEs. MaveDB now contains a large fraction of published studies, comprising over two hundred datasets and three million variant effect measurements. We created tools and APIs to streamline data submission and access, transforming MaveDB into a hub for the analysis and dissemination of these impactful datasets.

Details

Database :
OpenAIRE
Accession number :
edsair.doi...........a397c178d1ea7780c6b67b50ef68b5cf